PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness.

doi:10.1016/s0960-8966(98)00054-6

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Article

PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness.

Neuromuscular disorders : NMD - 1 Oct 1998

Phillips M F, Rogers M T, Barnetson R, Braun C, Harley H G, Myring J, Stevens D, Wiles C M, Harper P S

Abstract excerpt

We describe a family with a proximal myopathy, subclinical EMG myotonia, cataracts and deafness. Transmission through two generations and down the male line confirms autosomal dominant inheritance. There was no abnormal expansion of the CTG triplet repeat in the last exon of the dystrophia myoton...

Topics

Adult
Aged
Audiometry
Cataract
Deafness
Electromyography
Family Health
Female
Genes, Dominant
Humans
Male
Middle Aged
Muscular Diseases
Myotonia
Pedigree
Phenotype

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